Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1020R
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ATP7B

NM_000053.4:p.K1020R

Associated Papers

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N et al.

Jhep Reports : Innovation in Hepatology, 2025

40980162 (PubMed )
Supplement: mmc1.pdf

Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.

Benzine H et al.

Biochemical Genetics, 2025

Phenotype and molecular characterization of Wilson's disease in Morocco.

Abbassi N et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

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